ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4000-18A>G

gnomAD frequency: 0.00009  dbSNP: rs764830211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124437 SCV002444408 likely benign not provided 2023-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500236 SCV002808207 likely benign Sucrase-isomaltase deficiency 2021-12-28 criteria provided, single submitter clinical testing

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